B3GNT1

B4GAT1
Identifiers
Aliases	B4GAT1, B3GN-T1, B3GNT6, BETA3GNTI, MDDGA13, iGAT, iGNT, B3GNT1, beta-1,4-glucuronyltransferase 1
External IDs	OMIM: 605517; MGI: 1919680; HomoloGene: 38239; GeneCards: B4GAT1; OMA:B4GAT1 - orthologs
Gene location (Human)
Chr.	Chromosome 11 (human)
End	66,347,629 bp
Gene location (Mouse)
Chr.	Chromosome 19 (mouse)
End	5,091,159 bp
RNA expression pattern
	Top expressed in
	endothelial cell; ; middle temporal gyrus; ; pons; ; lateral nuclear group of thalamus; ; superior vestibular nucleus; ; prefrontal cortex; ; Brodmann area 23; ; Brodmann area 9; ; pars compacta; ; superior frontal gyrus;
	Top expressed in
	hypothalamus; ; striatum of neuraxis; ; hippocampus proper; ; superior frontal gyrus; ; primary visual cortex; ; proximal tubule; ; right kidney; ; cerebellar cortex; ; dentate gyrus of hippocampal formation granule cell; ; mesencephalon;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	transferase activity; glucuronosyltransferase activity; metal ion binding; glycosyltransferase activity; N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity; protein binding;
Cellular component	integral component of membrane; integral component of Golgi membrane; Golgi membrane; Golgi apparatus; extracellular exosome; membrane;
Biological process	protein glycosylation; poly-N-acetyllactosamine biosynthetic process; keratan sulfate biosynthetic process; protein O-linked mannosylation; axon guidance; protein O-linked glycosylation;
	Sources:Amigo / QuickGO
Orthologs
	11041
	108902
	ENSG00000174684
	ENSMUSG00000047379
	O43505
	Q8BWP8
	NM_006876
	NM_175383
	NP_006867
	NP_780592
	Wikidata
View/Edit Human	View/Edit Mouse

N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase is an enzyme that, in humans, is encoded by the B3GNT1 gene.^[5]^[6]

β-1,4-glucuronyltransferase

The B3GNT1 gene encodes a β-1,4-glucuronyltransferase, designated B4GAT1, that transfers glucuronic acid towards both α- and β-anomers of xylose^[7]. B4GAT1 is the priming enzyme for LARGE, a dual-activity glycosyltransferase that is capable of extending products of B4GAT1. Thus, B4GAT1 is involved in the initiation of the LARGE-dependent repeating disaccharide that is necessary for extracellular matrix protein binding to O-mannosylated α-dystroglycan that is lacking in secondary dystroglycanopathies.

Misidentification

The B3GNT1 gene was first reported to encode a member of the beta-1,3-N-acetylglucosaminyltransferase family and thought to be responsible for the synthesis of poly-N-acetyllactosamine^[5], a determinant for the blood group i antigen. Thus, it was also known as iGNT.

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000174684 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000047379 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b Sasaki K, Kurata-Miura K, Ujita M, Angata K, Nakagawa S, Sekine S, Nishi T, Fukuda M (December 1997). "Expression cloning of cDNA encoding a human beta-1,3-N-acetylglucosaminyltransferase that is essential for poly-N-acetyllactosamine synthesis". Proceedings of the National Academy of Sciences of the United States of America. 94 (26): 14294–9. doi:10.1073/pnas.94.26.14294. PMC 24948. PMID 9405606.
^ "Entrez Gene: B3GNT1 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1".
^ Praissman JL, Live DH, Wang S, Ramiah A, Chinoy ZS, Boons GJ, Moremen KW, Wells L (October 2014). "B4GAT1 is the priming enzyme for the LARGE-dependent functional glycosylation of α-dystroglycan". eLife. 3. doi:10.7554/eLife.03943. PMC 4227051. PMID 25279697.{{cite journal}}: CS1 maint: unflagged free DOI (link)

External links

Human B3GNT6 genome location and B3GNT6 gene details page in the UCSC Genome Browser.
Human B4GAT1 genome location and B4GAT1 gene details page in the UCSC Genome Browser.

This article on a gene on human chromosome 11 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000174684 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000047379 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid9405606-5] Sasaki K, Kurata-Miura K, Ujita M, Angata K, Nakagawa S, Sekine S, Nishi T, Fukuda M (December 1997). "Expression cloning of cDNA encoding a human beta-1,3-N-acetylglucosaminyltransferase that is essential for poly-N-acetyllactosamine synthesis". Proceedings of the National Academy of Sciences of the United States of America. 94 (26): 14294–9. doi:10.1073/pnas.94.26.14294. PMC 24948. PMID 9405606.

[entrez-6] "Entrez Gene: B3GNT1 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1".

[7] Praissman JL, Live DH, Wang S, Ramiah A, Chinoy ZS, Boons GJ, Moremen KW, Wells L (October 2014). "B4GAT1 is the priming enzyme for the LARGE-dependent functional glycosylation of α-dystroglycan". eLife. 3. doi:10.7554/eLife.03943. PMC 4227051. PMID 25279697.{{cite journal}}: CS1 maint: unflagged free DOI (link)

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β-1,4-glucuronyltransferase

Misidentification

References

Further reading

External links